Chen Yang and Annette Kim - interesting read here. The two founder populations here have differing repeat structures, differing SNVs within them, and apparently also different allele frequency of such variants. It's interesting to consider what else we might encounter in global populations, and what kind of Db of haplotypes is needed to power clinical variant interpretation at this and similar loci as a result.
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese The FGF14 expansions, like most expansions, can vary in length but also in the nature of the repeats, from "pure GAA" (considered pathogenic), to variations with GCA. The group screened FGF14 repeat expansion ina Japanese cohort of 460 molecularly undiagnosed adult-onset cerebellar ataxia patients and 1022 controls, together with 92 non-Japanese controls, and performed nanopore sequencing of FGF14 repeat expansion and discovered features unique to the ancestry group. #nanopore #ataxia #diversity
